Canonical Allele Identifier: CA2578058289

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 3011040
• ClinVar RCV Id: RCV003869703
• gnomAD v4: 4-25144878-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144878G>T , CM000666.2:g.25144878G>T	GRCh38
NC_000004.11:g.25146500G>T , CM000666.1:g.25146500G>T	GRCh37
NC_000004.10:g.24755598G>T	NCBI36
NG_028222.1:g.20705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.935-13C>A MANE Select	ENSP00000371535.2:n.935-13C>A
ENST00000680581.1:c.935-13C>A	ENSP00000506483.1:n.935-13C>A
ENST00000680824.1:n.2151-13C>A
ENST00000681071.1:n.1227-13C>A
ENST00000681341.1:n.2076-13C>A
ENST00000681948.1:c.1190-13C>A	ENSP00000505991.1:n.1190-13C>A
ENST00000358971.7:c.*733-13C>A	ENSP00000351857.3:n.*733-13C>A
ENST00000382103.6:c.935-13C>A	ENSP00000371535.2:n.935-13C>A
ENST00000503150.1:c.217-13C>A
ENST00000505513.1:n.235-13C>A
ENST00000514585.5:c.*636-13C>A	ENSP00000421880.1:n.*636-13C>A
NM_016955.3:c.935-13C>A	NP_058651.3:n.935-13C>A
XM_005248168.2:c.698-13C>A	XP_005248225.1:n.698-13C>A
XM_006713965.2:c.755-13C>A	XP_006714028.1:n.755-13C>A
XM_011513846.1:c.932-13C>A	XP_011512148.1:n.932-13C>A
XM_011513847.1:c.902-13C>A	XP_011512149.1:n.902-13C>A
XM_011513848.1:c.755-13C>A	XP_011512150.1:n.755-13C>A
XM_011513846.2:c.932-13C>A	XP_011512148.1:n.932-13C>A
XM_011513847.2:c.902-13C>A	XP_011512149.1:n.902-13C>A
XM_017008277.1:c.1190-13C>A	XP_016863766.1:n.1190-13C>A
XM_017008278.1:c.512-13C>A	XP_016863767.1:n.512-13C>A
NM_016955.4:c.935-13C>A MANE Select	NP_058651.3:n.935-13C>A